KEGG   VARIANT: 8737v1
Entry
8737v1                      Variant                                
Name
RIPK1 mutation
Type
Loss of function
Gene
RIPK1  receptor interacting serine/threonine kinase 1 [KO:K02861]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603453
Network
nt06516  TNF signaling
nt06527  Necroptosis
Disease
H02525  Disorders of innate immunity
Reference
  Authors
van Loo G, Bertrand MJM
  Title
Death by TNF: a road to inflammation.
  Journal
Nat Rev Immunol 1-15 (2022)
DOI:10.1038/s41577-022-00792-3
Reference
  Authors
Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S
  Title
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
  Journal
Science 361:810-813 (2018)
DOI:10.1126/science.aar2641
Reference
  Authors
Webster JD, Vucic D
  Title
The Balance of TNF Mediated Pathways Regulates Inflammatory Cell Death Signaling in Healthy and Diseased Tissues.
  Journal
Front Cell Dev Biol 8:365 (2020)
DOI:10.3389/fcell.2020.00365
Reference
  Authors
Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q
  Title
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
  Journal
Nature 577:109-114 (2020)
DOI:10.1038/s41586-019-1830-y
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